Liquid Biopsy and Multi‐Cancer Early Detection Tests for Cancer Screening: A Scoping Review

ABSTRACT Liquid biopsy constitutes a range of tests that use biological fluids to detect cancer. Research is now targeting their use for cancer screening. This is the first review of the evidence on liquid biopsy tests across a range of analytical parameters, biomarkers, and cancer types for cancer screening. A scoping review was conducted using JBI methodology for scoping reviews. MEDLINE and targeted websites were searched for studies published in 2014 or later on the use of liquid biopsy and multi‐cancer early detection tests for screening. A total of 104 studies were included, covering a wide range of study designs. Several types of biomarkers (e.g., cell‐free DNA, circulating tumor DNA) and analytical parameters were used. Most studies addressed test performance outcomes, while fewer addressed clinical outcomes, implementation considerations, and cost‐effectiveness. No empirical studies on cancer‐specific mortality were found. A large body of literature was identified that covered a range of cancer types, biomarkers, analytical parameters, and outcomes. Critical gaps in the literature were demonstrated, including evidence on clinical outcomes such as cancer‐specific mortality and potential harms that currently preclude the implementation of liquid biopsy tests for cancer screening. Findings of this review can be used to guide the necessary future research.

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Publication Details

Journal
Clinical Genetics
Published
2026-09-25
DOI
https://doi.org/10.1111/cge.70249
Primary Topic
Cancer Genomics and Diagnostics
Type
article
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article

Liquid Biopsy and Multi‐Cancer Early Detection Tests for Cancer Screening: A Scoping Review

Jill Tinmouth, Olivia Meggetto, Tessa Robinson, Meghan J. Walker et al.
Clinical Genetics
Cancer Genomics and Diagnostics
article

Liquid Biopsy and Multi‐Cancer Early Detection Tests for Cancer Screening: A Scoping Review

Jill Tinmouth, Olivia Meggetto, Tessa Robinson, Meghan J. Walker, Lily Thao Nguyen, Marian Saab, Pooja Kochar
article en

Abstract

ABSTRACT Liquid biopsy constitutes a range of tests that use biological fluids to detect cancer. Research is now targeting their use for cancer screening. This is the first review of the evidence on liquid biopsy tests across a range of analytical parameters, biomarkers, and cancer types for cancer screening. A scoping review was conducted using JBI methodology for scoping reviews. MEDLINE and targeted websites were searched for studies published in 2014 or later on the use of liquid biopsy and multi‐cancer early detection tests for screening. A total of 104 studies were included, covering a wide range of study designs. Several types of biomarkers (e.g., cell‐free DNA, circulating tumor DNA) and analytical parameters were used. Most studies addressed test performance outcomes, while fewer addressed clinical outcomes, implementation considerations, and cost‐effectiveness. No empirical studies on cancer‐specific mortality were found. A large body of literature was identified that covered a range of cancer types, biomarkers, analytical parameters, and outcomes. Critical gaps in the literature were demonstrated, including evidence on clinical outcomes such as cancer‐specific mortality and potential harms that currently preclude the implementation of liquid biopsy tests for cancer screening. Findings of this review can be used to guide the necessary future research.

Clinical Genetics
Sunnybrook Health Science Centre (CA), University of Toronto (CA), Health Sciences Centre (CA), Public Health Ontario (CA)
Good health and well-being
Openalex Percentile: Top 15%
Cancer Genomics and Diagnostics
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Liquid Biopsy and Multi‐Cancer Early Detection Tests for Cancer Screening: A Scoping Review — Jill Tinmouth, Olivia Meggetto, et al. · Clinical Genetics (2026) | TGRS Research Map | TGRS